DisGeNET - a database of gene-disease associations

List of shared variants

Deglutition Disorders, C0011168

Disease: Developmental regression

Source: ALL

Results per page

Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv			37
rs28934907	MECP2	0.732	0.320	X	154032268	missense variant	G/A;C	snv			30
rs1448259271	IRF2BPL ; LOC107984638	0.790	0.240	14	77027279	stop gained	C/A;T	snv			23
rs387907260	KCTD7	0.776	0.280	7	66633410	missense variant	C/T	snv	4.0E-06	1.4E-05	22
rs796052686	KCTD7	0.776	0.280	7	66638394	missense variant	G/A	snv	1.2E-05		22
rs1555377415	IRF2BPL ; LOC107984638	0.827	0.200	14	77027274	stop gained	G/C	snv			18
rs1566785990	IRF2BPL ; LOC107984638	0.851	0.120	14	77026534	missense variant	A/G	snv			12